Bayanova Mirgul, Abilova Aigerim, Nauryzbayeva Alisa, Turarbekova Zhibek
"University Medical Center" Corporate Fund, Kerey, Zhanibek Khandar Str. 5/1, Astana, Kazakhstan.
Case Rep Med. 2024 Jan 12;2024:5319443. doi: 10.1155/2024/5319443. eCollection 2024.
Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.
佩罗特综合征（PRLTS）是一种罕见的常染色体隐性疾病，与HSD17B4、HARS2、CLPP、LARS2、GGPS1、RMND1、TWNK、ERAL1和PRORP基因的致病变异有关。该疾病的特征是感音神经性听力损失，有时伴有神经学体征，包括进行性感觉和运动性周围神经病变、小脑共济失调、轻度智力低下以及女性卵巢发育不全。在本文中，我们报告了一例被诊断为痉挛性双瘫型脑瘫的儿童病例。确定先证者在HSD17B4基因中罕见的复合杂合子的父母的遗传分离状态，将有助于对该家庭中佩罗特综合征的预后进行遗传咨询。
